Description:
CHOROIDEREMIA; CHM
CHM GENE; CHM
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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English
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Country of Origin
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USA
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Family History
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Y
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
CHM |
| Chromosomal Location |
Xq21.2 |
| Allelic Variant 1 |
; CHOROIDEREMIA |
| Identified Mutation |
c.941dupG |
| Remarks |
Clinically affected; onset of symptoms at 35 years of age; diagnosed at 43 years of age; ophthalmology exam at 43 years of age: gradually progressive fuzzy vision in both eyes, seeing flashes when blinking under artificial light; Visual Acuity - dist (SC): OD 20/25-2+3, OS 20/40 ph NI; Spectacles - Manifest Refraction: OD: -0.75+0.50X30 20/20, OS: -0.25sph NI, both 20/25-2; Intraocular Pressure -applanation: OD: 16, OS: 14 at 355pm; visual field full to confrontation; motility: ortho, full versions, OU, full ductions; pupils OD: 4-3.5, OS: 4-3.5, no APD; normal slit lamp examination; posterior segment exam at 355pm- neo 2.5%, mydriacyl 1%: vitreous OD/OS clear; optic nerve: OD/OS flat, sharp, mild pallor; CD ratio: vertical:0.2; macula: OD/OS flat, RPE stippling no heme or exudates; vessels: OD/OS normal vessels; periphery: OD/OS pigment stippling and focal RPE atrophy and exposure of choroidal vessels, no holes or tears; OCT: OD central foveal thickness 256 um nl foveal contour, no SRF/IRF; OS central foveal thickness 232 um nl foveal contour, no SRF/IRF; DNA sequencing of all coding exons and exon/intron boundaries revealed a hemizygous frame-shift mutation in the CHM gene: c.941dupG; affected maternal grandfather (not in repository). |
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